Neurofibromatosis, pronounced Neuro-fi-bro-ma-to-sis (NF for short), is a genetic disorder of the nervous system that causes tumors to form on the nerves anywhere in the body at any time. This progressive disorder affects all races, all ethnic groups and both sexes equally. NF is one of the most common genetic disorders in the United States (one in every 3,000 to 4,000 births), even though not many people are familiar with it.

The disease personally affects actress Gillian Anderson, whose brother passed from the disease and was diagnosed when she was just a teenager. Anderson was kind enough to speak with Global Genes about her involvement in a congressional push for NF awareness programs across the US.

GGP: Your brother was diagnosed with neurofibromatosis at just three-years-old. What was the impact of that diagnosis on you and your family?

GA: My brother Aaron’s neurofibromatosis was so mild in childhood that it was easy to forget about. My mom got busy helping run a support group and educating herself about the disease.

GGP: How did neurofibromatosis affect his life? Did it limit him from taking on his goals in life? How did he come to terms with the reality of his disease?

GA: Wish I could ask him how he came to terms with it. He just never knew any different; it was always a part of his reality. It may be why he developed an early interest in prejudice of all kinds. He cared deeply about racial equality and fairness in general. But he went on to get an undergraduate degree at U of M and was working on a PHD at Stanford when he died of an NF related brain tumor. He travelled, he DJ’d and break danced. I think he led a pretty full life.

GGP: As a sister of a patient who had this condition, what would your advice be to other family members who are watching a loved one go through the process of getting a diagnosis, treatment, and dealing with a rare disease during every-day life?

GA: Several things I would suggest. 1) Speak openly about the condition – don’t hide the diagnosis or whisper about it – NF, or any disease name, should be part of the wallpaper of the family life. 2) Avoid pampering, coddling, and over-protecting. 3) Don’t identify the child with the disease, eg “this is my NF child” 4) Have your child’s health monitored by a specialist in the condition, even if it means going out of town for care.

GGP: Did you or your brother ever encounter any type of judgment or stereotyping during the course of his life? Was he treated differently than others?

GA: I don’t remember any incidents. His NF was so mild that he and everyone else could ignore it. He was fortunate to escape the learning disabilities, incoordination and social awkwardness that are common in NF kids. He did have skin tumors on his upper torso that were only really evident when he was at the beach in trunks. He had no shame– so those around him didn’t either.

Photo by Lawrence Ho

GGP: What resources or organizations would you recommend patients and their loved ones turn to (are there any specific organizations you are involved with for NF or rare disease in general?)

GA: Fundraising efforts for NF have been largely for the NF Network (formerly NF, Inc.), www.nfnetwork.org. I have also recorded material for the NF Center at Washington University, nfcenter.wustl.edu. For several years I was a patron of the NFA (now the Neuro Foundation}, and now I’m supporting Children with Tumours, www.childrenwithtumours.org, a new UK group devoted to helping kids with NF.

GGP: You addressed congress about the disease; what was your goal—and what was the experience like?

GA: The aim was to educate Congress about neurofibromatosis and to encourage the individual representatives to sign a letter requesting federal funds for NF research. It was nerve racking and empowering.

I can tell you that when I first found our 1 year old daughter had NF the fact that Gillian was so honest and proactive made a tremendous difference. The fact that her brother passed from this disease breaks my heart. My daughter is now 8 and all we can hope..all any of us can hope for is a way of treating and beating this disease. I thank Gillian and I thank you all out there who have shared your trials,pains and joy knowing someone who has this disease.

Our story of dealing with NF was the opposite of Gillian Anderson’s. My family accepted our child with NF, but unfortunately we lived in a city where the doctors had decided not to treat people with NF. We lived through 9+ years of sheer horror before we figured out what they were up to. NF has a long way to go when it comes to acceptance of people who have it, let alone treating or curing it. I wish Gillian would hear our story.

One thing I share in common with Gillian Anderson is having a family member with NF. My dad has it (NF1), and it didn’t feel like as if he’s any different. We’re just normal everyday. But what I fear is that it might get passed on to next generations, and long-term consequences for my dad. And here in the Philippines, NF isn’t well known and not a lot of people are informed about the condition. When people here see someone with NF tumors on the skin, they think it’s contagious. We still have a long way to go, but there’s an advocacy group already for NF here. My friend, Kcat Yarza, is someone I’m connected to because of NF.